GLRA1 - glycine receptor alpha 1 Gene

中文名称：甘氨酸受体α1

种属: Homo sapiens

同用名: STHE; HKPX1

基因 ID: 2741 | 基因类型: protein coding

关于 GLRA1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,822,513-151,924,851 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues, 45 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质是五聚体抑制性甘氨酸受体的一个亚基，它介导中枢神经系统的突触后抑制。该基因的缺陷是惊吓病 (STHE) 的一个原因，STHE 也称为遗传性过度惊跳症或先天性僵人综合症。已发现编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 12 月]

The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]

GLRA1 基因产物(3)

mRNA	Protein	Name
NM_000171.4	NP_000162.2	glycine receptor subunit alpha-1 isoform 2 precursor
NM_001146040.2	NP_001139512.1	glycine receptor subunit alpha-1 isoform 1 precursor
NM_001292000.2	NP_001278929.1	glycine receptor subunit alpha-1 isoform 3

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables extracellularly glycine-gated chloride channel activity	IDA IDA: 通过直接分析推断	2155780	GOA
enables extracellularly glycine-gated chloride channel activity	IMP IMP: 通过突变表型推断	7920629	GOA
enables glycine binding	IDA IDA: 通过直接分析推断	2155780	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	23994010	GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA IDA: 通过直接分析推断	8137830	GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP IMP: 通过突变表型推断	8137830	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11929858	GOA
enables taurine binding	IDA IDA: 通过直接分析推断	15748848	GOA
enables zinc ion binding	IMP IMP: 通过突变表型推断	16144831	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to amino acid stimulus	IDA IDA: 通过直接分析推断	16144831	GOA
involved in cellular response to ethanol	IDA IDA: 通过直接分析推断	25973519	GOA
involved in cellular response to zinc ion	IDA IDA: 通过直接分析推断	16144831	GOA
involved in chloride transmembrane transport	IDA IDA: 通过直接分析推断	16144831	GOA
involved in chloride transport	IDA IDA: 通过直接分析推断	8137830	GOA
involved in monoatomic ion transport	IDA IDA: 通过直接分析推断	2155780	GOA
involved in muscle contraction	IMP IMP: 通过突变表型推断	11973623	GOA
involved in negative regulation of transmission of nerve impulse	IMP IMP: 通过突变表型推断	11973623	GOA
involved in neuropeptide signaling pathway	IDA IDA: 通过直接分析推断	2155780	GOA
involved in positive regulation of acrosome reaction	IMP IMP: 通过突变表型推断	11751269	GOA
acts upstream of or within regulation of membrane potential	IMP IMP: 通过突变表型推断	7920629	GOA
acts upstream of or within startle response	IMP IMP: 通过突变表型推断	8298642	GOA
involved in startle response	IMP IMP: 通过突变表型推断	8298642	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in intracellular membrane-bounded organelle	IDA IDA: 通过直接分析推断	7506679	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	2155780	GOA
located in plasma membrane	IMP IMP: 通过突变表型推断	11973623	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GLRA1 蛋白结构

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
457 a.a.

蛋白主名

其他名称

glycine receptor subunit alpha-1

glycine receptor 48 kDa subunit

GLRA1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	GLRA1	P23415	GLRB	Homo sapiens	P48167	Anti Bait CoIP	35526563
种属内	GLRA1	P23415	MAGED1	Homo sapiens	Q9Y5V3	Y2H Prey Pooling	32296183
种属内	GLRA1	P23415	MAGED1	Homo sapiens	Q9Y5V3	Validated Y2H	32296183
种属内	GLRA1	P23415	MAGED1	Homo sapiens	Q9Y5V3	Y2H Array	32296183
种属内	GLRA1	P23415	SORBS3	Homo sapiens	O60504	Y2H Prey Pooling	32296183
种属内	GLRA1	P23415	SORBS3	Homo sapiens	O60504	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Hyperekplexia 1

HKPX1	Exaggerated Startle Reaction
Sthe	Stiff-Baby Syndrome
Kok Disease	Startle Disease, Familial
Startle Reaction, Exaggerated	Stiff-Man Syndrome, Congenital
Stiff-Person Syndrome, Congenital	Congenital Stiff-Man Syndrome
Congenital Stiff-Person Syndrome	Familial Startle Disease
Hereditary Hyperexplexia 1	Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive
Hyperekplexia	Hereditary Hyperexplexia
Stiff-Person Syndrome

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Stiff-Person Syndrome

SPS	Stiff-Man Syndrome
Stiff Man Syndrome	Stiff Person Syndrome
Moersch-Woltman Syndrome	Sms
Stiff-Trunk Syndrome	Morsch Woltman Syndrome
Stiff Person Syndrome And Related Disorders	Stiff Person Spectrum Disorder
Classic Stiff Person Syndrome	Classic Sps
Focal Stiff Limb Syndrome	Focal Stiff-Person Syndrome
Stiff Leg Syndrome	Progressive Encephalomyelitis With Rigidity

Molybdenum Cofactor Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency	Mocod
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency	Deficiency Of Molybdenum Cofactor
Deficiency, Molybdenum Cofactor

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Hyperekplexia 2

HKPX2	Autosomal Recessive Hyperekplexia 2
Hyperekplexia, Type 2

Periodic Limb Movement Disorder

Nocturnal Myoclonus Syndrome

Nocturnal Myoclonus

Conversion Disorder

Conversion Hysteria Or Reaction	Conversion Hysterical Neurosis
Hysterical Neurosis, Conversion Type	Fnd
Functional Movement Disorder	Functional Neurological Disorder
Dissociative Disorder

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05492	GLRA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	GLRA1	RGD	RGD:2704
Bos taurus	GLRA1	VGNC	VGNC:29412
Canis familiaris	GLRA1	VGNC	VGNC:41268
Macaca mulatta	GLRA1	VGNC	VGNC:73074
Mus musculus	GLRA1	MGD	MGI:95747
Felis catus	GLRA1	VGNC	VGNC:62588

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GLRA1 - glycine receptor alpha 1 Gene

关于 GLRA1

功能概要

GLRA1 基因产物(3)

GLRA1 蛋白结构

GLRA1 蛋白互作信息

关联疾病

直系同源

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GLRA1 - glycine receptor alpha 1 Gene

关于 GLRA1

功能概要

GLRA1 基因产物(3)

GLRA1 蛋白结构

GLRA1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z